{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA248626",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 134,
          "referenceAllele": "A",
          "start": 133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010471",
      "geneNCBI_id": 861,
      "geneSymbol": "RUNX1",
      "hgvs": [
        "NP_001745.2:p.Ala134Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA248623",
          "hgvs": "NM_001754.5:c.400G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167643"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=29507[alleleid]",
        "alleleId": 29507,
        "preferredName": "NM_001754.5(RUNX1):c.400G>C (p.Ala134Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/14468",
        "RCV": [
          "RCV000015554"
        ],
        "variationId": 14468
      }
    ]
  },
  "type": "amino-acid"
}